Aliases & Classifications for Atrioventricular Block

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Sources:
9Disease Ontology, 43Novoseek, 22GTR, 60UMLS, 33MeSH
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Atrioventricular Block, Aliases & Descriptions:

Name: Atrioventricular Block 9 43 22 60
 
Av Block 9


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Disease Ontology9 DOID:0050820
MeSH33 D054537

Summaries for Atrioventricular Block

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Disease Ontology:9 A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.

MalaCards based summary: Atrioventricular Block, also known as av block, is related to sick sinus syndrome and ventricular septal defect. An important gene associated with Atrioventricular Block is SCN5A (sodium channel, voltage-gated, type V, alpha subunit), and among its related pathways are Potassium transporters inward current and HOP Signaling. The compounds flecainide and propafenone have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Wikipedia:63 An atrioventricular block (or AV block) involves the impairment of the conduction between the atria and... more...

Related Diseases for Atrioventricular Block

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Diseases related to Atrioventricular Block via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1sick sinus syndrome31.6SCN5A
2ventricular septal defect31.3NKX2-5
3cardiogenic shock31.0PIK3C2A, NPPB
4familial restrictive cardiomyopathy30.8NPPB, DES
5myocardial infarction30.8NPPB, GATA4, PIK3C2A
6myopathy30.7DES, PIK3C2A, KCNH2, LMNA
7pericardial effusion30.7PIK3C2A
8muscular dystrophy30.7LMNA, PIK3C2A, DES
9long qt syndrome30.6KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
10atrial fibrillation30.5KCNH2, KCNE1, KCNQ1, SCN5A, LMNA, NPPB
11dilated cardiomyopathy30.4DES, PIK3C2A, SCN5A, LMNA, NPPB
12hypokalemia30.4KCNH2, PIK3C2A
13congenital heart block30.3LMNA, SCN5A, KCNQ1, KCNE2
14coronary artery disease30.3NPPB, LMNA, PIK3C2A
15congenital heart disease30.1TBX5, GATA4
16third-degree atrioventricular block10.8
17second-degree atrioventricular block10.8
18first-degree atrioventricular block10.8
19myocarditis10.7
20inferior myocardial infarction10.7
21mobitz type ii atrioventricular block10.6
22cardiac sarcoidosis10.6
23acute myocarditis10.6
24syncope10.6
25tetralogy of fallot10.5NKX2-5
26kearns-sayre syndrome10.5
27long qt syndrome 110.4KCNQ1
28right bundle branch block10.4
29restrictive cardiomyopathy10.4
30neuroleptic malignant syndrome10.4PIK3C2A
31short qt syndrome 210.4KCNQ1
32holt-oram syndrome10.4TBX5
33endocarditis10.4
34transposition of the great arteries10.4
35spinocerebellar ataxia10.3KCNH2, SCN5A
36acute myocardial infarction10.3
37rheumatic fever10.3
38congenitally corrected transposition of the great arteries10.3
39giant cell myocarditis10.3
40distal muscular dystrophy10.3DES, PIK3C2A
41calcinosis10.3LMNA, PIK3C2A
42limb-girdle muscular dystrophy10.2PIK3C2A, LMNA
43endocardial fibroelastosis10.2
44aortitis10.2
45hypertrophic cardiomyopathy10.2
46infective endocarditis10.2
47bronchogenic cyst10.2
48heterotaxy10.2
49left ventricular outflow tract obstruction10.2
50dysautonomia10.2

Graphical network of the top 20 diseases related to Atrioventricular Block:



Diseases related to atrioventricular block

Symptoms for Atrioventricular Block

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Drugs & Therapeutics for Atrioventricular Block

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Drug clinical trials:

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Search NIH Clinical Center for Atrioventricular Block

Genetic Tests for Atrioventricular Block

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Genetic tests related to Atrioventricular Block:

id Genetic test Affiliating Genes
1 Atrioventricular Block22

Anatomical Context for Atrioventricular Block

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MalaCards organs/tissues related to Atrioventricular Block:

31
Heart, Testes, Brain, Retina, Lung, Tonsil, B cells

Animal Models for Atrioventricular Block or affiliated genes

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MGI Mouse Phenotypes related to Atrioventricular Block:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.6GATA4, TBX5, NKX2-5, SCN5A, KCNH2
2MP:00053817.9KCNE1, KCNE2, KCNQ1, LMNA, GATA4
3MP:00028737.9KCNQ1, SCN5A, LMNA, NKX2-5, TBX5, GATA4
4MP:00053977.7PIK3C2A, KCNE1, KCNE2, LMNA, NKX2-5, GATA4
5MP:00107687.5DES, PIK3C2A, KCNH2, SCN5A, LMNA, NKX2-5
6MP:00053787.4PIK3C2A, KCNH2, KCNQ1, SCN5A, LMNA, NKX2-5
7MP:00053697.0NPPB, DES, KCNH2, KCNQ1, SCN5A, LMNA
8MP:00053856.5DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA
9MP:00053766.2KCNE1, KCNH2, PIK3C2A, DES, KCNE2, KCNQ1

Publications for Atrioventricular Block

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Articles related to Atrioventricular Block:

(show top 50)    (show all 267)
idTitleAuthorsYear
1
Atrioventricular block in siblings with argininosuccinic aciduria. (25889439)
2015
2
Long-term outcome of physiologic VDD pacing versus non-physiologic VVI pacing in dogs with high-grade atrioventricular block. (25726416)
2015
3
Second-degree atrioventricular block. (25318341)
2014
4
Syncope secondary to second-degree atrioventricular block with donepezil use. (25484499)
2014
5
Mobitz type II second-degree atrioventricular block during dobutamine stress echocardiography. True or false? (25080840)
2014
6
Left ventricular pacing in neonates and infants with isolated congenital complete or advanced atrioventricular block: short- and medium-term outcome. (25115169)
2014
7
First-degree atrioventricular block may not be that benign after all. (24695392)
2014
8
High-degree atrioventricular block in a child with acute myocarditis. (24940135)
2014
9
Intermittent Atrioventricular Block following Fingolimod Initiation. (25161784)
2014
10
Mobitz Type II Atrioventricular Block Followed by Remifentanil in a Patient with Severe Aortic Stenosis. (23662214)
2013
11
Profound first-degree atrioventricular block. (24057329)
2013
12
Third-degree atrioventricular block in an adult with a giant cardiac fibroma. (23547182)
2013
13
Syncope associated with documented paroxysmal atrioventricular block reproduced by adenosine 5' triphosphate injection. (24128810)
2013
14
Acquired Gerbode defect and third-degree atrioventricular block secondary to vehicular trauma in a dog. (24304841)
2013
15
Simultaneous pheochromocytoma and third-degree atrioventricular block in 2 dogs. (24102992)
2013
16
Significance of first-degree atrioventricular block in acute endocarditis. (23440164)
2013
17
Normalisation of left ventricular systolic function after change from VVI pacing to biventricular pacing in a child with congenital complete atrioventricular block, long-QT syndrome, and congenital muscular dystrophy: a 10-year follow-up. (23679959)
2013
18
Epigastric pain in a 63-year-old woman. Atrial flutter with 2:1 atrioventricular block; acute inferoposterior myocardial infarction. (24350531)
2013
19
Usefulness of cardiac magnetic resonance imaging in the diagnosis of cardiac myocarditis revealed by complete atrioventricular block. (23791597)
2013
20
Complete atrioventricular block in an adult with congenitally corrected transposition of the great arteries with interrupted inferior vena cava. (23798952)
2012
21
N-terminal pro-brain natriuretic peptide and electrocardiographic variables associated with increased risk of complete atrioventricular block and mortality in patients with acute inferior myocardial infarction. (23042311)
2012
22
Cardiac sarcoidosis presenting with complete atrioventricular block and sustained monomorphic ventricular tachycardia. (22977456)
2012
23
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. (22899775)
2012
24
Conventional and biventricular pacing in patients with first-degree atrioventricular block. (22516061)
2012
25
Lacosamide-induced second-degree atrioventricular block in a patient with partial epilepsy. (21801173)
2011
26
Cardiac leiomyoma associated with advanced atrioventricular block in a young dog. (21303738)
2011
27
Clinical and angiographic findings of complete atrioventricular block in acute inferior myocardial infarction. (20372753)
2010
28
Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. (20975234)
2010
29
Gene mutations associated with atrioventricular block complicated by long QT syndrome. (21088333)
2010
30
A case of spontaneous pneumothorax presenting with high-degree atrioventricular block. (19729170)
2009
31
Compensatory hemodynamic variations for cardiovascular stabilization in complete atrioventricular block before and after pacemaker implantation]. (19404032)
2009
32
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. (19328042)
2009
33
Prevention of complete heart block in children of mothers with anti-SSA/Ro and anti-SSB/La autoantibodies: detection and treatment of first-degree atrioventricular block. (19584727)
2009
34
Plasma levels of B-type natriuretic peptide in children and adolescents with high degree atrioventricular block. (18485504)
2009
35
Gerbode type defect and third degree atrioventricular block in association with bacterial endocarditis in a dog. (19010115)
2008
36
Reversible exercise-induced advanced atrioventricular block due to cardiac sarcoidosis. (17199004)
2007
37
Case report: Concurrent congenital complete atrioventricular block, Meckel's diverticulum and cerebral palsy in a 19-year-old male. (17582526)
2007
38
Acute myocarditis associated with cardiac amyloidosis manifesting as transient complete atrioventricular block and slow ventricular tachycardia. (15964086)
2006
39
Relationship between basal thinning of the interventricular septum and atrioventricular block in patients with cardiac sarcoidosis. (15881282)
2005
40
Complete atrioventricular block in Becker muscular dystrophy. (15156213)
2004
41
Effect of cilostazol on the ventricular escape rate and neurohumoral factors in patients with third-degree atrioventricular block. (12684307)
2003
42
Advanced atrioventricular block in a 39-year-old man with acute rheumatic fever. (9826853)
1998
43
Effect of aminophylline in patients with atropine-resistant late advanced atrioventricular block during acute inferior myocardial infarction. (9789698)
1998
44
Recovery from complete atrioventricular block caused by idiopathic giant cell myocarditis after corticosteroid therapy. (9583449)
1998
45
Supernormal conduction in a case of Mobitz type II atrioventricular block. (9533380)
1998
46
Incidence of cardiac sarcoidosis in Japanese patients with high-degree atrioventricular block. (9327691)
1997
47
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
48
Functional dissociation of cellular activation as a mechanism of Mobitz type II atrioventricular block. (8462160)
1993
49
Significance of advanced atrioventricular block in acute inferior myocardial infarction--a study based on ventricular function and Holter monitoring. (2423464)
1986
50
Early and late atrioventricular block in acute inferior myocardial infarction. (6736451)
1984

Variations for Atrioventricular Block

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Clinvar genetic disease variations for Atrioventricular Block:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SCN5ANM_000335.4(SCN5A): c.4780G> A (p.Asp1594Asn)single nucleotide variantPathogenicrs137854607GRCh37Chr 3, 38595800: 38595800
2SCN5ANM_000335.4(SCN5A): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs137854608GRCh37Chr 3, 38651267: 38651267

Expression for genes affiliated with Atrioventricular Block

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Search GEO for disease gene expression data for Atrioventricular Block.

Pathways for genes affiliated with Atrioventricular Block

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Pathways related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GATA4, NKX2-5
2
Show member pathways
9.3GATA4, NKX2-5, LMNA
39.3NKX2-5, GATA4, NPPB
49.1NKX2-5, TBX5, GATA4
59.1SCN5A, KCNQ1, KCNH2
69.0KCNE1, KCNQ1, SCN5A
7
Show member pathways
9.0KCNQ1, KCNE1, KCNH2
88.9GATA4, TBX5, NKX2-5, SCN5A
9
Show member pathways
8.8NPPB, GATA4, TBX5, NKX2-5
108.6KCNH2, KCNE1, KCNE2, KCNQ1
118.1LMNA, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A

Compounds for genes affiliated with Atrioventricular Block

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Compounds related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1flecainide49 43 28 1213.3SCN5A, KCNH2
2propafenone28 43 49 1213.3KCNH2, SCN5A
3mexiletine49 43 1212.3SCN5A, KCNH2
4cisapride43 28 1212.2SCN5A, KCNH2
5metoprolol43 49 28 24 1214.2KCNH2, NPPB
6atenolol43 49 28 24 1214.0NPPB, KCNH2
7thallium4310.0PIK3C2A, NPPB
8amiodarone43 49 28 1213.0KCNH2, NPPB
9mibg439.9NPPB, PIK3C2A
10spironolactone43 59 28 49 1213.9NPPB, KCNH2
11phenytoin43 49 28 1212.8KCNH2, SCN5A, TSPO
12ptca439.8NPPB, PIK3C2A
13carvedilol43 49 28 1212.8KCNH2, NPPB
14clofilium43 2810.8KCNH2, KCNQ1
15gamma-hydroxybutyrate439.7TSPO, PIK3C2A
16bepridil43 28 1211.7KCNQ1, KCNH2
17valine439.7KCNH2, SCN5A, TSPO
18chromanol439.7KCNE1, KCNQ1
19indapamide43 1210.6KCNE1, KCNQ1
20chromanol 293b59 43 2811.6KCNE1, KCNQ1
21lysine439.6DES, KCNH2, SCN5A, NPPB
22ryanodine43 28 5911.5NPPB, GATA4, DES
23isoleucine439.5SCN5A, KCNQ1, KCNH2
24isoflurane49 43 1211.5TSPO, PIK3C2A
25katp439.4KCNQ1, KCNH2
26cocaine43 1210.3PIK3C2A, KCNH2, SCN5A, TSPO
27haloperidol43 49 28 2 1213.2NPPB, TSPO, KCNH2, PIK3C2A
28norepinephrine43 24 1211.1NPPB, TSPO, PIK3C2A, DES
29acetylcholine43 49 28 24 1213.1DES, PIK3C2A, TSPO, NPPB
30xe 991 dihydrochloride599.1KCNH2, KCNE1, KCNE2, KCNQ1
31e-4031 dihydrochloride599.1KCNQ1, KCNE2, KCNE1, KCNH2
32jnj 303599.1KCNQ1, KCNE2, KCNE1, KCNH2
33shk-dap22599.1KCNQ1, KCNE2, KCNE1, KCNH2
34ica 110381599.0KCNQ1, KCNE2, KCNE1, KCNH2
35doxorubicin43 49 1211.0DES, PIK3C2A, GATA4, NPPB
36glycogen43 2410.0DES, PIK3C2A, GATA4, NPPB
37isoproterenol43 129.9NPPB, KCNQ1, KCNH2, PIK3C2A
38progesterone43 28 59 24 1212.9DES, PIK3C2A, GATA4, NPPB
39nitric oxide43 24 1210.8NPPB, GATA4, NKX2-5, KCNE1, DES
40lipid438.8PIK3C2A, KCNH2, KCNE1, LMNA, NPPB
41retinoic acid43 249.8DES, KCNH2, LMNA, TBX5, GATA4
42creatinine438.6DES, PIK3C2A, KCNH2, LMNA, TSPO, NPPB
43epinephrine43 24 1210.5NPPB, KCNQ1, PIK3C2A
44potassium43 24 1210.3PIK3C2A, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
45testosterone43 59 24 1211.3DES, PIK3C2A, KCNH2, TSPO, GATA4, NPPB
46steroid438.3DES, PIK3C2A, KCNH2, TSPO, GATA4, NPPB
47sodium43 249.0PIK3C2A, KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
48calcium43 49 24 1210.4DES, PIK3C2A, KCNH2, KCNQ1, SCN5A, LMNA
49serine437.3DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA
50arginine437.1NPPB, DES, PIK3C2A, KCNH2, KCNE1, KCNQ1

GO Terms for genes affiliated with Atrioventricular Block

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Cellular components related to Atrioventricular Block according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423838.9SCN5A, KCNQ1, DES
2lysosomeGO:00057648.9KCNQ1, KCNE2, KCNE1
3cell surfaceGO:00099868.9KCNH2, KCNE1, KCNE2, SCN5A
4voltage-gated potassium channel complexGO:00080768.6KCNQ1, KCNE2, KCNE1, KCNH2

Biological processes related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1membrane depolarization during action potentialGO:008601010.2KCNH2, SCN5A
2ventricular cardiac muscle cell developmentGO:005501510.1NKX2-5, LMNA
3bundle of His developmentGO:000316610.1NKX2-5, TBX5
4regulation of delayed rectifier potassium channel activityGO:0190225910.1KCNE1, KCNE2
5positive regulation of sodium ion transportGO:001076510.0SCN5A, NKX2-5
6membrane repolarizationGO:008600910.0KCNE1, KCNE2
7cardiac muscle cell differentiationGO:00550079.9NKX2-5, TBX5
8cardiac muscle cell action potential involved in contractionGO:00860029.8KCNE1, KCNE2, SCN5A
9regulation of potassium ion transmembrane transportGO:019013799.8KCNH2, KCNE1, KCNE2
10regulation of cardiac muscle cell contractionGO:00860049.8SCN5A, GATA4
11ventricular cardiac muscle tissue developmentGO:00032299.7TBX5, GATA4
12regulation of atrial cardiac muscle cell membrane repolarizationGO:00603729.7SCN5A, KCNQ1
13atrioventricular valve morphogenesisGO:00031819.6GATA4, TBX5
14endocardial cushion developmentGO:00031979.6GATA4, TBX5
15heart loopingGO:00019479.6GATA4, NKX2-5
16ventricular septum developmentGO:00032819.5GATA4, TBX5
17positive regulation of cardioblast differentiationGO:00518919.5GATA4, TBX5, NKX2-5
18atrial septum morphogenesisGO:00604139.5GATA4, TBX5, NKX2-5
19positive regulation of cardiac muscle cell proliferationGO:00600459.4GATA4, TBX5
20regulation of membrane repolarizationGO:00603069.4KCNH2, KCNE2, KCNQ1
21cellular response to drugGO:00356909.3KCNQ1, KCNE2, KCNH2
22membrane repolarization during cardiac muscle cell action potentialGO:00860139.3KCNH2, KCNE1, KCNQ1
23positive regulation of potassium ion transmembrane transportGO:019013819.3KCNQ1, KCNE1, KCNH2
24cardiac muscle contractionGO:00600489.2KCNH2, KCNQ1, SCN5A, NKX2-5
25regulation of heart contractionGO:00080169.2DES, KCNQ1
26membrane repolarization during action potentialGO:00860119.0KCNQ1, KCNE2, KCNE1, KCNH2
27potassium ion exportGO:00714359.0KCNH2, KCNE1, KCNE2, KCNQ1
28potassium ion transmembrane transportGO:00718059.0KCNH2, KCNE1, KCNE2, KCNQ1
29cellular response to cAMPGO:00713208.9KCNQ1, KCNE1
30male gonad developmentGO:00085848.9KCNE1, KCNQ1, GATA4
31regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603078.8SCN5A, KCNQ1, KCNE2, KCNE1, KCNH2
32ventricular cardiac muscle cell action potentialGO:00860058.8KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A
33regulation of heart rate by cardiac conductionGO:00860918.8KCNH2, KCNE1, KCNE2, KCNQ1, SCN5A

Molecular functions related to Atrioventricular Block according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1inward rectifier potassium channel activityGO:000524210.0KCNH2, KCNE2
2scaffold protein bindingGO:00971109.5SCN5A, KCNQ1
3voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarizationGO:00860089.4KCNQ1, KCNE1
4potassium channel regulator activityGO:00154599.4KCNE2, KCNE1
5RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.3GATA4, TBX5
6ion channel bindingGO:00443259.2KCNE2, KCNQ1, SCN5A
7voltage-gated potassium channel activityGO:00052499.2KCNH2, KCNE1, KCNQ1
8transcription factor bindingGO:00081349.1GATA4, TBX5, NKX2-5
9voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:019022828.9KCNQ1, KCNE2, KCNE1, KCNH2
10delayed rectifier potassium channel activityGO:00052518.9KCNQ1, KCNE2, KCNE1, KCNH2
11protein homodimerization activityGO:00428038.8KCNH2, KCNE2, KCNQ1, NKX2-5
12protein bindingGO:00055156.8DES, KCNH2, KCNE1, KCNQ1, SCN5A, LMNA

Products for genes affiliated with Atrioventricular Block

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Sources for Atrioventricular Block

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3CDC
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25ICD10
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28IUPHAR
29KEGG
33MeSH
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38NCIt
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42NINDS
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